Canonical Allele Identifier: CA2172714593

Gene: CAPN3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.42402920G= , CM000677.2:g.42402920G=	GRCh38
NC_000015.9:g.42695118G= , CM000677.1:g.42695118G=	GRCh37
NC_000015.8:g.40482410G=	NCBI36
NG_008660.1:g.59818G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349748.8:c.1519G=	ENSP00000183936.4:p.Val507=
ENST00000357568.8:c.1663G=	ENSP00000350181.3:p.Val555=
ENST00000397163.8:c.1663G= MANE Select	ENSP00000380349.3:p.Val555=
ENST00000466369.5:n.2172G=
ENST00000483208.5:n.2552G=
ENST00000495723.1:n.2552G=
ENST00000549793.5:n.1894G=
ENST00000638141.2:n.1534G=
ENST00000673646.1:c.127G=	ENSP00000501007.1:p.Val43=
ENST00000673705.1:c.309+3268G=	ENSP00000501021.1:n.309+3268G=
ENST00000673813.1:n.580+5G=
ENST00000318023.11:c.1519G=	ENSP00000326281.8:p.Val507=
ENST00000349748.7:c.1519G=	ENSP00000183936.4:p.Val507=
ENST00000357568.7:c.1663G=	ENSP00000350181.3:p.Val555=
ENST00000397163.7:c.1663G=	ENSP00000380349.3:p.Val555=
ENST00000397200.8:c.127G=	ENSP00000380384.4:p.Val43=
ENST00000567071.5:c.122G=
ENST00000569827.5:c.127G=	ENSP00000454379.1:p.Val43=
NM_000070.2:c.1663G=	NP_000061.1:p.Val555=
NM_024344.1:c.1663G=	NP_077320.1:p.Val555=
NM_173087.1:c.1519G=	NP_775110.1:p.Val507=
NM_173088.1:c.127G=	NP_775111.1:p.Val43=
NM_000070.3:c.1663G= MANE Select	NP_000061.1:p.Val555=
NM_024344.2:c.1663G=	NP_077320.1:p.Val555=
NM_173087.2:c.1519G=	NP_775110.1:p.Val507=
NM_173088.2:c.127G=	NP_775111.1:p.Val43=